Canonical Allele Identifier: CA386636958

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109998881T>C (hg19) ; chr12:g.109561076T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561076T>C , CM000674.2:g.109561076T>C	GRCh38
NC_000012.11:g.109998881T>C , CM000674.1:g.109998881T>C	GRCh37
NC_000012.10:g.108483264T>C	NCBI36
NG_007096.1:g.17422A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.548A>G MANE Select	ENSP00000445920.1:p.His183Arg
ENST00000537496.5:c.*113A>G	ENSP00000444793.1:n.*113A>G
ENST00000540016.5:c.392A>G	ENSP00000474582.1:p.His131Arg
ENST00000541763.6:c.773A>G	ENSP00000474981.1:n.773A>G
ENST00000544051.5:c.*429A>G	ENSP00000438079.1:n.*429A>G
ENST00000545712.6:c.548A>G	ENSP00000445920.1:p.His183Arg
NM_052845.3:c.548A>G	NP_443077.1:p.His183Arg
NR_038118.1:n.708A>G
XM_011538266.1:c.393A>G	XP_011536568.1:p.Ala131=
XM_011538267.1:c.393A>G	XP_011536569.1:p.Ala131=
XM_011538268.1:c.275A>G	XP_011536570.1:p.His92Arg
XM_011538269.1:c.272A>G	XP_011536571.1:p.His91Arg
XM_011538267.3:c.393A>G	XP_011536569.1:p.Ala131=
XM_011538268.2:c.275A>G	XP_011536570.1:p.His92Arg
XM_011538269.2:c.272A>G	XP_011536571.1:p.His91Arg
XM_024448961.1:c.548A>G	XP_024304729.1:p.His183Arg
NM_052845.4:c.548A>G MANE Select	NP_443077.1:p.His183Arg
NR_038118.2:n.659A>G